Robin Huiras remembers when her health faltered during her years in Pennsylvania.

The former Reading Eagle reporter has a one-in-a-million disorder that few people, even those in the medical community, know about. Dyskeratosis congenita, or DC, is not one of those diseases that fills the pages of newspapers and magazines or even medical journals, because it affects so few people.

"When I was at the paper in Reading, I was really sick," said Huiras, a freelance writer and mother to Eva, 3, and Diana, 7. "It was not long after I moved away from Reading back to the Midwest that I got really sick and needed a stem cell transplant."

Huiras, who now lives in Minnesota, is among the people with local ties raising money for Team Josh and the DCO Riders for next month's Million Dollar Bike Ride in Philadelphia. The event, organized by Penn Medicine's Orphan Disease Center, raises money and awareness for rare diseases like DC that don't typically get the attention or research funding.

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Huiras is the board president of Dyskeratosis Congenita Outreach, a group that provides information and support to families affected by the disorder. The group also works to raise the profile of the disease among doctors and researchers.

Huiras will be joined by local riders like Kevin Kelly of Exeter Township who are devoted to the cause. Kelly is a longtime friend of Bruce Friedman of West Chester. Friedman's son, Josh, died at 17 due to complications related to the condition in 2011.

About dyskeratosis congenita

When you live with a one-in-a-million condition, you become an expert at explaining it in a few sentences.

Huiras said it's important to talk about the symptoms so people know what to look for. In many cases, there's a lag between when patients first notice something is wrong and when they get a diagnosis.

Dyskeratosis congenita is an inherited condition that affects the telomeres. The telomeres are sometimes compared to the protective caps on your shoelaces because they are found at the end of chromosomes.

The telomeres play a key role in cell division, allowing DNA cells to replicate without damaging the chromosomes.

People with DC have extremely short telomeres, and that's the root of the problem, Huiras said.

"When you don't have that, parts of the body that need to reproduce rapidly go bad," she said. "There's not really any system that's immune from the reach of DC."

The cell division problem appears in several ways, but symptoms will vary, she said. Skin and nail abnormalities and white patches in the mouth known as leukoplakia are hallmarks of the disease.

Patients may also experience hair loss and lung, skeletal and gastrointestinal issues, among others.

Bone marrow failure occurs in about 90 percent of patients, and those patients will need stem cell or bone marrow transplants to survive.

Steroids can help with cell growth in the bone marrow, but for many patients the transplant is inevitable.

"Research is so important," she said. "It's the center point and linchpin of understanding."

The ride

The team hopes to raise at least $20,000. The group raised $10,000 last year and is trying to raise another $10,000 for this year's ride.

UPenn's Orphan Disease Center will match all funds raised up to $50,000.

Even funding a small research grant could make a big difference, Bruce Friedman said.

"The $50,000 doesn't sound like a lot in the grand scheme of things, but these pilot grants can be pretty impactful," he said. "When you look at DC, it's a telomere disorder, and there are other diseases that fall into that category. If we can advance research into telomere disorders, it's powerful."

Friedman said the bike ride is another way he, his wife, Patricia, and children, Noah, 18, and Katie, 15, pay tribute to Josh.

Josh was like the mayor of their town, he said, because he knew and inspired so many people. He was a junior at Unionville High School when he died, a member of the drama group, and played on the Challenger baseball team.

"He drew us all closer together, and he'll always be part of us," Bruce said.

Making an impact

There were about 300 people with DC in the U.S. when Josh was first diagnosed, Friedman said, but the number is likely more than 1,000 people.

He said there's a lot that's unknown about the disorder, and that means there's a big opportunity to move the understanding for DC and other telomere disorders ahead.

"If you find a rare disease that has a connection to you, it doesn't take a lot to make an impact," he said. "This ride is one way to make an impact, and we're very grateful for those who do."

Huiras said she doesn't dwell on the fact she has such a rare condition, but she's thankful for the life she's lived. Just surviving her stem cell transplant in 2005 was not guaranteed.

"When I think about having such a rare thing, I'm not any luckier or unluckier than anyone else," she said. "I've been able to make something good out of it. I want there to be hope for families and the kids that have DC."

Contact Matthew Nojiri: 610-371-5062 or mnojiri@readingeagle.com.

The Million Dollar Bike Ride

What: More than 600 cyclists will participate in the ride with three route options of 12, 33 or 73 miles. The event, in its third year, raises money for rare disease research.

When: May 7, 7:30 a.m.

Where: The ride starts and finishes at the University of Pennsylvania campus in downtown Philadelphia